المؤلفون: Dario Cocciadiferro, Tommaso Mazza, Davide Vecchio, Tommaso Biagini, Francesco Petrizzelli, Emanuele Agolini, Andrea Villani, Daniele Minervino, Diego Martinelli, Cristiano Rizzo, Sara Boenzi, Filippo Maria Panfili, Paola Sabrina Buonuomo, Marina Macchiaiolo, Andrea Bartuli, Antonio Novelli

المصدر: Frontiers in Genetics, Vol 14 (2024)

مصطلحات موضوعية: DHCR24, desmosterolosis, genotype–phenotype correlation, structural biology, medical genetics, bioinformatics, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2023.1307934/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/eddb7ff654c54ace841f99d9db7f610d

المؤلفون: Federico Baronio, Francesca Conti, Angela Miniaci, Filomena Carfagnini, Valeria Di Natale, Giulio Di Donato, Matthias Testi, Camilla Totaro, Alessandro De Fanti, Sara Boenzi, Carlo Dionisi-Vici, Susanna Esposito, Andrea Pession

المصدر: Molecular Genetics and Metabolism Reports, Vol 30, Iss , Pp 100833- (2022)

مصطلحات موضوعية: Wolman disease, Hemophagocytic lymphohistiocytosis, Sebelipase alpha, Oxysterols, Adrenal calcifications, Lysosomal acid lipase, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426921001282; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/d3292bd338b34c0ba987114461dbc513

المؤلفون: Michela Semeraro, Elisa Sacchetti, Federica Deodato, Turgay Coşkun, Incilay Lay, Giulio Catesini, Giorgia Olivieri, Cristiano Rizzo, Sara Boenzi, Carlo Dionisi-Vici

المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-11 (2021)

مصطلحات موضوعية: Oligosaccharides, Storage disorders, Pompe disease, Autophagy, Danon disease, Vici syndrome, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/40d6cbf7fbf54c78a9591e365d719277

المؤلفون: Margherita Ruoppolo, Sabrina Malvagia, Sara Boenzi, Carla Carducci, Carlo Dionisi-Vici, Francesca Teofoli, Alberto Burlina, Antonio Angeloni, Tommaso Aronica, Andrea Bordugo, Ines Bucci, Marta Camilot, Maria Teresa Carbone, Roberta Cardinali, Claudia Carducci, Michela Cassanello, Cinzia Castana, Chiara Cazzorla, Renzo Ciatti, Simona Ferrari, Giulia Frisso, Silvia Funghini, Francesca Furlan, Serena Gasperini, Vincenza Gragnaniello, Chiara Guzzetti, Giancarlo La Marca, Luisa La Spina, Tania Lorè, Concetta Meli, MariaAnna Messina, Amelia Morrone, Francesca Nardecchia, Rita Ortolano, Giancarlo Parenti, Enza Pavanello, Damiana Pieragostino, Sara Pillai, Francesco Porta, Francesca Righetti, Claudia Rossi, Valentina Rovelli, Alessandro Salina, Laura Santoro, Pina Sauro, Maria Cristina Schiaffino, Simonetta Simonetti, Monica Vincenzi, Elisabetta Tarsi, Anna Paola Uccheddu

المصدر: International Journal of Neonatal Screening, Vol 8, Iss 3, p 47 (2022)

مصطلحات موضوعية: aminoacidemias, fatty acid oxidation disorders, inborn errors of metabolism, newborn screening, organic acidemias, urea cycle defects, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2409-515X/8/3/47; https://doaj.org/toc/2409-515X

URL الوصول: https://doaj.org/article/693ce51ab3634e2681369cd0d228d859

المؤلفون: Anna Taranta, Mohamed A. Elmonem, Francesco Bellomo, Ester De Leo, Sara Boenzi, Manoe J. Janssen, Amer Jamalpoor, Sara Cairoli, Anna Pastore, Cristiano De Stefanis, Manuela Colucci, Laura R. Rega, Isabella Giovannoni, Paola Francalanci, Lambertus P. van den Heuvel, Carlo Dionisi-Vici, Bianca M. Goffredo, Rosalinde Masereeuw, Elena Levtchenko, Francesco Emma

المصدر: Cells, Vol 10, Iss 12, p 3294 (2021)

مصطلحات موضوعية: cystinosis, disulfiram, mice, zebrafish, Cytology, QH573-671

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2073-4409/10/12/3294; https://doaj.org/toc/2073-4409

URL الوصول: https://doaj.org/article/77716b538a574f199446c5577079fa43

المؤلفون: Sara Boenzi, Federica Deodato, Roberta Taurisano, Bianca Maria Goffredo, Cristiano Rizzo, Carlo Dionisi-Vici

المصدر: Journal of Lipid Research, Vol 57, Iss 3, Pp 361-367 (2016)

مصطلحات موضوعية: oxysterols, Niemann-Pick type C disease, Niemann-Pick type B disease, acid lipase deficiency, Smith-Lemli-Opitz syndrome, congenital familial hypercholesterolemia, Biochemistry, QD415-436

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S0022227520354353; https://doaj.org/toc/0022-2275

URL الوصول: https://doaj.org/article/d64c370e43854895a2a77613e6ae4ce6

المؤلفون: Francesco Tagliaferri, Elisa Sacchetti, Federica Deodato, Carlo Dionisi-Vici, Giulio Catesini, Sara Boenzi

المصدر: Molecular Genetics and Metabolism. 134:337-343

مصطلحات موضوعية: Adolescent, Endocrinology, Diabetes and Metabolism, medicine.disease_cause, Biochemistry, Diglycerides, chemistry.chemical_compound, Endocrinology, Tandem Mass Spectrometry, Genetics, medicine, Humans, Child, Molecular Biology, Arachidonic Acid, Infant, Newborn, Infant, Niemann-Pick Disease, Type C, Lipid metabolism, Lipid Metabolism, Pathophysiology, chemistry, Child, Preschool, Lipidomics, lipids (amino acids, peptides, and proteins), Arachidonic acid, Lactosylceramides, NPC1, Sphingomyelin, Intracellular, Oxidative stress, Chromatography, Liquid

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5be87b5e8aecb8d0f8a2fba79d3aa7c7
https://doi.org/10.1016/j.ymgme.2021.11.005

المؤلفون: Andrea Pietrobattista, Marco Spada, Manila Candusso, Sara Boenzi, Carlo Dionisi‐Vici, Paola Francalanci, Amelia Morrone, Lorenzo Ferri, Giuseppe Indolfi, Emanuele Agolini, Giuseppe Giordano, Lidia Monti, Giuseppe Maggiore, A. S. Knisely

المصدر: Pediatric Transplantation. 26

مصطلحات موضوعية: Transplantation, Pediatrics, Perinatology and Child Health

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::a8a3c2c54c1277fc6f8a94734c299117
https://doi.org/10.1111/petr.14318

المؤلفون: Cristiano Rizzo, Sara Boenzi, Carlo Dionisi-Vici, Giorgia Olivieri, Federica Deodato, Michela Semeraro, Giulio Catesini, Incilay Lay, Turgay Coşkun, Elisa Sacchetti

المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-11 (2021)
Orphanet Journal of Rare Diseases

مصطلحات موضوعية: Fucosidosis, medicine.medical_specialty, Aspartylglucosaminuria, Oligosaccharides, lcsh:Medicine, Urine, Gangliosidosis, Gastroenterology, Tandem Mass Spectrometry, Internal medicine, medicine, Autophagy, Humans, Pharmacology (medical), Danon disease, Sialidosis, Chromatography, High Pressure Liquid, Genetics (clinical), Glycogen Storage Disease Type II, business.industry, Mucolipidosis, Research, lcsh:R, Pompe disease, Storage disorders, General Medicine, medicine.disease, Vici syndrome, Lysosomal Storage Diseases, Biomarker (medicine), business, Yunis-varon syndrome

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ada458d5521c68fcc0aaf3dde5b7adb
https://doaj.org/article/40d6cbf7fbf54c78a9591e365d719277

المؤلفون: Sara Boenzi, Stefano Levi Mortera, Giulio Catesini, Federica Deodato, Lorenza Putignani, Matteo Garibaldi, Valeria Marzano, Roberta Taurisano, Anna Sidorina, Carlo Dionisi-Vici

المصدر: Journal of Inherited Metabolic Disease. 44:705-717

مصطلحات موضوعية: Adult, Male, Proteomics, Phospholipid, 03 medical and health sciences, chemistry.chemical_compound, Immune system, Tandem Mass Spectrometry, Autophagy, Genetics, Humans, Child, Lactate Dehydrogenases, Phospholipids, Genetics (clinical), 030304 developmental biology, chemistry.chemical_classification, 0303 health sciences, Aryldialkylphosphatase, Glycogen Storage Disease Type II, Chemistry, 030305 genetics & heredity, Infant, Fatty acid, Metabolism, Lipid Metabolism, PON1, Enzyme, Biochemistry, Child, Preschool, Lipidomics, Female, Lysosomes, gpld1, phosphatidylcholine metabolism, plasma lipidome, plasma proteome, pompe disease, Homeostasis, Chromatography, Liquid

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c502ec14688699f1cd321d4ef07cda3d
https://doi.org/10.1002/jimd.12344